Canonical Allele Identifier: CA359192244

Gene: DNAH5

Linked Data

• dbSNP Id: rs1373859322
• gnomAD v3: 5-13753513-G-T
• gnomAD v4: 5-13753513-G-T
• MyVariant Identifiers: chr5:g.13753622G>T (hg19) ; chr5:g.13753513G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753513G>T , CM000667.2:g.13753513G>T	GRCh38
NC_000005.9:g.13753622G>T , CM000667.1:g.13753622G>T	GRCh37
NC_000005.8:g.13806622G>T	NCBI36
NG_013081.1:g.195968C>A
NG_013081.2:g.195968C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10592C>A MANE Select	ENSP00000265104.4:p.Ser3531Tyr
ENST00000681290.1:c.10547C>A	ENSP00000505288.1:p.Ser3516Tyr
ENST00000265104.4:c.10592C>A	ENSP00000265104.4:p.Ser3531Tyr
NM_001369.2:c.10592C>A	NP_001360.1:p.Ser3531Tyr
XM_005248262.2:c.10547C>A	XP_005248319.1:p.Ser3516Tyr
XM_005248262.3:c.10700C>A	XP_005248319.2:p.Ser3567Tyr
XM_017009177.1:c.10700C>A	XP_016864666.1:p.Ser3567Tyr
XM_017009178.1:c.9605C>A	XP_016864667.1:p.Ser3202Tyr
XM_017009179.2:c.9605C>A	XP_016864668.1:p.Ser3202Tyr
XM_017009180.1:c.10700C>A	XP_016864669.1:p.Ser3567Tyr
XM_017009181.1:c.10700C>A	XP_016864670.1:p.Ser3567Tyr
XM_017009182.1:c.10700C>A	XP_016864671.1:p.Ser3567Tyr
XM_017009185.1:c.5789C>A	XP_016864674.1:p.Ser1930Tyr
XM_017009186.1:c.5342C>A	XP_016864675.1:p.Ser1781Tyr
XM_017009188.1:c.4679C>A	XP_016864677.1:p.Ser1560Tyr
XM_024454388.1:c.9605C>A	XP_024310156.1:p.Ser3202Tyr
XM_024454389.1:c.9194C>A	XP_024310157.1:p.Ser3065Tyr
NM_001369.3:c.10592C>A MANE Select	NP_001360.1:p.Ser3531Tyr